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Prenatal tests allow you to monitor the course of pregnancy and the development of the fetus from the early stage of pregnancy to delivery. Contrary to popular belief, they are not only used to detect serious malformations in a child. What are prenatal tests, what are the indications for prenatal tests, what types of prenatal tests are available in Poland and what diseases can they detect? These questions are asked by every woman expecting a baby - it is worth knowing the answer to them.

What isprenatal testing ? This term describes specific, specialized tests that are performed on a pregnant woman to assess whether the pregnancy is going well and the fetus is developing properly.

Someprenatal testsallow you to detect serious, sometimes life-threatening defects or diseases - some of them, if detected at the right time, can be treated while still in the womb mother. Such tests are not performed routinely: in order for a doctor to refer them, there must be specific indications for their performance.

Prenatal testing - non-invasive prenatal testing

Basic,non-invasive prenatal testsare performed to confirm the correct course of pregnancy and whether it is a single or multiple pregnancy, as well as to assess the child's gender and length and weight (and whether the dimensions of the fetus are adequate to the week of pregnancy). They are made for every expectant mother.

They are 100% safe, because they are made only from the mother's blood or with the use of ultrasound equipment. If non-invasive prenatal testing detects a risk of abnormalities, it is an indication for invasive prenatal testing or intrauterine treatment.

Non-invasive prenatal examinations include:

  • First trimester ultrasound- performed between 11 and 14 weeks of pregnancy. During its course, serious anomalies in the structure of the fetus are excluded. This is called screening test, which means that it is recommended for every pregnant woman.
  • PAPP-A test (Double test)- performed just before the ultrasound of the first trimester, because both tests constitute the so-called integrated test. It consists in drawing the blood of the future mother and determining the proteinpregnancy A (PAPP-A) and free beta hCG (free beta chorionic gonadotropin subunit - markers of Down syndrome, Edwards syndrome and Patau syndrome).
  • The triple test- performed between the 16th and 18th week of pregnancy, it involves the determination of three hormonal substances in the blood serum of the future mother: AFP (alpha-fetoprotein), beta-hCG (beta chorionic gonadotropin free subunit) and estriol to assess the risk of Down syndrome and neural tube defects. It is performed mainly in women who do not want to undergo invasive prenatal examinations, and the results of the ultrasound examination raise doubts of the doctor.
  • NIFTY Test, Harmony Test- these are performed between the 10th and 24th week of pregnancy. They rely on the analysis of a blood sample of the future mother using the DNA sequencing method for free DNA of fetal origin. They assess the risk of trisomy, e.g. Down syndrome, Edwards syndrome, Patau syndrome. They are not refunded.
  • Second trimester ultrasound- performed between 18 and 22 weeks of pregnancy. It thoroughly assesses the anatomy of the fetus and its heart, aiming to detect heart defects and other anomalies, including genetic defects (if done before the 20th week of pregnancy).
  • Fetal heart echo- performed between 15 and 22 weeks of pregnancy, according to doctor's indications. The aim is to assess the structure of the fetal heart, and the indication - to suspect cardiac pathology or the inability to assess the fetal heart and circulatory system.
  • Doppler ultrasound- after 26 weeks of pregnancy. This test measures the speed of blood flow in the baby and mother and allows you to monitor the condition of the fetus when the mother has high blood pressure, if the fetus grows too slowly, it can also help identify high-risk pregnancies.
  • Third trimester ultrasound- performed between the 28th and 32nd weeks of pregnancy. The doctor assesses the degree of development and structure of the fetus, measures the femur, head, abdomen, heart rate, amount of amniotic fluid, as well as the position and degree of maturity of the placenta.
  • The Manning test(biophysical fetal profile - BPP) - consists of cardiotocographic (CTG) and ultrasound examination, and is performed when the doctor suspects a higher risk of fetal failure.

Prenatal testing - invasive prenatal testing

Invasive prenatal testingis performed when there is a need to assess the risk of birth defects in the fetus. They are not mandatory, and because they are performed invasively, they also have a low risk of complications, including miscarriage.

Invasive prenatal examinations include:

  • Chorionic villus sampling (trophoblast biopsy)- performed between the 11th and 14th week of pregnancy; consists in collecting a fragment of the chorion (external fetal membrane) under ultrasound control
  • Cordocentesis- performed after 18 weeks of pregnancy, if there was a serological conflict;
  • involves puncturing the umbilical cord through the abdominal wall and collecting blood from the umbilical vein under ultrasound guidance for analysis, including the determination of the karyotype (set of chromosomes).
  • Amniocentesis- performed between the 16th and 19th week of pregnancy, if there is a risk of genetic diseases; consists in collecting an amniotic sample by means of a puncture through the abdominal wall under ultrasound guidance.
  • Fetal tissue biopsy- performed between 18 and 20 weeks of pregnancy; consists in taking a section of the skin, liver or muscles of the fetus under ultrasound or endoscope for examination. It is performed only in the case of suspicion of serious and genetically determined diseases of these organs.

Mandatory pregnancy tests

What are the indications for prenatal tests?

Non-invasive prenatal examinations , such as ultrasound of the 1st, 2nd and 3rd trimester is the so-called screening tests and should be performed by every pregnant woman. The indications for other tests are:

  • mother's age over 35
  • abnormalities detected during 1st trimester ultrasound
  • older child has genetic or birth defects
  • an abnormality in either parent's karyotype.

Invasive prenatal examinationsis recommended only in justified cases - e.g. when there is a risk of malformations. Who should undergo invasive prenatal screening? The indications for invasive prenatal examinations are:

  • positive double or triple test
  • age of the expectant mother over 35 and no non-invasive tests
  • incorrect result of the so-called Genetic ultrasound
  • central nervous system defect found in the fetus (also in previous pregnancies)
  • having a baby with a metabolic disease
  • occurrence of trisomy 21 in any of the previous pregnancies
  • chromosomal defects in parents
  • fetal chromosomal abnormalities in previous pregnancies
  • Sex chromosome aberrations in previous pregnancies.

What diseases do prenatal testing detect?

Prenatal tests can identify about 60 defects and diseases that your baby will be born with or will develop later on. The most common of them are:

  • Cystic fibrosis- manifested by abnormal cell development in the systemrespiratory and digestive. Annually, statistically speaking, 20,000 children are born with it in Poland. children.
  • Phenylketonuria -is a metabolic disease. The quick introduction of a special diet allows you to minimize the effects of the disease. In Poland, about 8,000 children are born with this disease each year.
  • Hemophilia -insufficient blood clotting, which is a burden on 4,000 of newborns is closely related to gender. If a daughter is born, she will only be a carrier and the son will become ill.
  • Duchenne muscular dystrophy -progressive muscle wasting statistically inherits 6,000 boys. But only half of those whose mothers carry the defective gene get sick.
  • Down syndrome -is the best known hereditary disease, closely related to the age of the mother. Statistically, 55,000 are born with her. children.
  • Huntington's Chore- St. Vitus's dance, inherited by 4,000 kids. It manifests itself with uncontrolled movements and increasing dementia. Brain damage over time leads to profound dementia.
  • Turner syndrome- it is a genetic disease of women caused by the absence of one of the two X sex chromosomes in all or some of the cells of the body. Girls and women with this defect are usually short, have webbed skin on both sides of the neck, they do not have armpit and pubic hair, they may have severely underdeveloped vagina, uterus and breasts. The patient may also have serious eye defects, aortic stenosis, and mental retardation.
  • Edwards syndrome- is caused by chromosome 18 trisomy. Impairs mental and physical development - defects of the heart, kidneys, fingers. Affected babies rarely live beyond 6 months.

Prenatal testing - benefits for the child and parents

Prenatal testsare performed in the best interest of the child and his parents. Some of the defects can be treated even before the baby is born (this is the case, for example, in the case of urinary tract obstruction, thrombocytopenia). In addition, doctors, knowing that a sick child will be born, can better prepare for delivery and provide the newborn with professional help quickly.

This is especially true of heart defects. Then there are two teams of specialists in the delivery room: one is delivering the baby, and the other - consisting of neonatologists and cardiologists - takes the baby over immediately to save his life. A child diagnosed with, for example, an umbilical hernia or a heart defect should be born in a specialized center with an appropriately trained medical team and high-quality medical equipment.

Chances of survival and he althsick babies grow then even by several dozen percent. In the case of serious fetal heart defects, early diagnosis is of great importance, because surgery performed immediately after delivery is often the only chance to save the child's life.

Is prenatal testing risky?

Not everyprenatal screeningis invasive, and the risk of invasive prenatal testing (which is only done in justified cases) is also often exaggerated. Amniocentesis, considered to be one of the most risky invasive prenatal tests, ends with a miscarriage on average once every 200 tests (and although the risk is statistically small, it is only performed if it is really necessary and the parents agree).

Invasive prenatal examinations are performed under ultrasound control, thanks to which the doctor can carefully observe the punctured area to avoid damage to the fetus. Therefore, the more modern the equipment and the more experienced the gynecologist, the lower the risk of miscarriage.

Who does prenatal testing?

Routine prenatal examinations, such as ultrasound or fetal heart examination, are performed by a gynecologist-obstetrician. Biochemical tests on the patient's blood are performed by diagnosticians, while invasive prenatal tests - including chorionic villus sampling or amniocentesis - by doctors with extensive diagnostic experience who cooperate with a specialized laboratory.

Where to do prenatal testing? How much does prenatal screening cost?

Prenatal tests can be performed both in state clinics and in private clinics. Prenatal tests are on the list of tests reimbursed by the He alth Fund. A referral for them is issued by a gynecologist (also in a private facility, if the doctor has a signed agreement with the National He alth Fund). The indication for referral for a prenatal examination under the National He alth Fund is the fulfillment of one of the basic criteria:

  • age of the future mother over 35
  • chromosomal aberration of the fetus or a child in a previous pregnancy
  • abnormal pregnancy ultrasound or biochemical test result
  • higher risk of having a child with a monogenetic or multi-factorial disease
  • structural chromosomal aberrations in the mother or father of the child

If the expectant mother has no indications for the examination, but she wants to do it (because, for example, she is 34 years old and is terrified of having a child with a defect) - she has to pay for it herself. The cost varies depending on the examination, e.g. an ultrasound examination with a visit is about PLN 250-400, and the NIFTY test - even PLN 2,500. If a woman belongs to the group with an indication - it is the doctor's responsibilityinforming her about the possibility of performing analyzes and providing the address of the center where she can do prenatal tests.

Can I refuse to undergo prenatal tests?

Prenatal testing is optional. Invasive prenatal tests may be refused, but it is worth being aware that women over 35 have a higher risk of pregnancy and fetal pathology - and the purpose of prenatal tests is to identify this risk and detect fetal defects at an early stage of pregnancy, which makes it possible to treat a child still in the womb or allows for the preparation of labor under certain conditions and immediate treatment after birth.

Does a doctor have to issue a referral for prenatal testing?

If there are medical indications, the doctor is obliged to issue a referral for prenatal examinations - this results both from the legal provisions guaranteeing the patient's right to information (Article 9 (2) of the Act of November 6, 2008 on the rights of patients and the Ombudsman Patient,) and the Code of Medical Ethics.

The right to prenatal tests results from the right of a pregnant woman to be informed about the condition of the fetus, its possible diseases and defects, and the possibilities of their treatment in the fetal period (Article 19 (1) (1) and (2) of the Act of 30 August 1991 on he alth care establishments, Journal of Laws of 1991, No. 91, item 408, as amended).

The violation by the doctor of the pregnant woman's right to prenatal tests (the result of which is her inability to make a decision about legal abortion and giving birth to a child with irreversible impairment or genetic defect may be grounds for compensation claims.

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Pregnancy